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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.Cerebral peduncle angle: Unreliable in differentiating progressive supranuclear palsy from other neurodegenerative diseasesHeterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypesIncreased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.Characteristic microglial features in patients with hereditary diffuse leukoencephalopathy with spheroids.Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.C9ORF72 repeat-associated non-ATG-translated polypeptides are distributed independently of TDP-43 in a Japanese patient with c9ALS.A Japanese family with idiopathic basal ganglia calcification with novel SLC20A2 mutation presenting with late-onset hallucination and delusion.Bunina bodies in motor and non-motor neurons revisited: a pathological study of an ALS patient after long-term survival on a respirator
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Takuya Konno
@ast
Takuya Konno
@en
Takuya Konno
@es
Takuya Konno
@nl
type
label
Takuya Konno
@ast
Takuya Konno
@en
Takuya Konno
@es
Takuya Konno
@nl
prefLabel
Takuya Konno
@ast
Takuya Konno
@en
Takuya Konno
@es
Takuya Konno
@nl
P106
P31
P496
0000-0002-2685-0025